Variant report

Variant	nsv581471
Chromosome Location	chr2:37213186-37257386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:37215196-37215467	HepG2	liver:	n/a	n/a
2	ATF2	chr2:37239989-37240618	GM12878	blood:	n/a	n/a
3	ATF2	chr2:37232207-37232802	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:37240105-37240439	GM12878	blood:	n/a	n/a
5	BCLAF1	chr2:37232209-37232835	GM12878	blood:	n/a	n/a
6	BCLAF1	chr2:37239997-37240602	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:37232378-37232794	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:37240130-37240517	GM12878	blood:	n/a	n/a
9	CEBPB	chr2:37246254-37246589	A549	lung:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
10	CEBPB	chr2:37232229-37232541	K562	blood:	n/a	n/a
11	CEBPB	chr2:37232250-37232480	A549	lung:	n/a	n/a
12	CEBPB	chr2:37226277-37226376	K562	blood:	n/a	n/a
13	CEBPB	chr2:37248053-37248604	HepG2	liver:	n/a	chr2:37248429-37248440 chr2:37248084-37248097
14	CEBPB	chr2:37219228-37219428	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:37246316-37246520	Hela-S3	cervix:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
16	CEBPB	chr2:37246325-37246586	K562	blood:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
17	CEBPB	chr2:37247617-37248603	IMR90	lung:	n/a	chr2:37248429-37248440 chr2:37248084-37248097
18	CEBPB	chr2:37232234-37232555	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr2:37246278-37246570	HepG2	liver:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
20	CEBPB	chr2:37227698-37227946	A549	lung:	n/a	n/a
21	CEBPB	chr2:37232072-37232906	GM12878	blood:	n/a	n/a
22	CEBPB	chr2:37215151-37215482	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:37246381-37246531	IMR90	lung:	n/a	chr2:37246387-37246398 chr2:37246387-37246398 chr2:37246387-37246400 chr2:37246388-37246399 chr2:37246409-37246420
24	CHD1	chr2:37232612-37232907	GM12878	blood:	n/a	n/a
25	CTCF	chr2:37253340-37253490	HMEC	breast:	n/a	n/a
26	CTCF	chr2:37253400-37253550	HMF	breast:	n/a	n/a
27	CTCF	chr2:37253320-37253470	AG04449	skin:	n/a	n/a
28	CTCF	chr2:37232240-37232390	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr2:37232260-37232410	K562	blood:	n/a	n/a
30	CTCF	chr2:37253340-37253490	GM12864	blood:	n/a	n/a
31	CTCF	chr2:37253260-37253410	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr2:37232320-37232470	GM12872	blood:	n/a	n/a
33	CTCF	chr2:37232280-37232430	BJ	skin:	n/a	n/a
34	CTCF	chr2:37232221-37232447	NHEK	skin:	n/a	n/a
35	CTCF	chr2:37232240-37232390	HepG2	liver:	n/a	n/a
36	CTCF	chr2:37232260-37232410	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr2:37253239-37253519	A549	lung:	n/a	n/a
38	CTCF	chr2:37253274-37253511	A549	lung:	n/a	n/a
39	CTCF	chr2:37234220-37234370	GM12867	blood:	n/a	n/a
40	CTCF	chr2:37253320-37253472	A549	lung:	n/a	n/a
41	CTCF	chr2:37253300-37253450	HVMF	connective:	n/a	n/a
42	CTCF	chr2:37232260-37232410	GM12865	blood:	n/a	n/a
43	CTCF	chr2:37232260-37232410	HMF	breast:	n/a	n/a
44	CTCF	chr2:37253240-37253390	HCM	heart:	n/a	n/a
45	CTCF	chr2:37253300-37253450	GM12870	blood:	n/a	n/a
46	CTCF	chr2:37253320-37253470	HPF	lung:	n/a	n/a
47	CTCF	chr2:37253300-37253450	HCFaa	heart:	n/a	n/a
48	CTCF	chr2:37232260-37232410	GM12874	blood:	n/a	n/a
49	CTCF	chr2:37232143-37232487	IMR90	lung:	n/a	n/a
50	CTCF	chr2:37232260-37232410	AG09309	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37007113..37008064-chr2:37231570..37232413,4	MCF-7	breast:
2	chr2:37219829..37222181-chr2:37235362..37237238,2	K562	blood:
3	chr2:37232752..37235418-chr2:37239434..37241635,2	K562	blood:
4	chr2:37194465..37196285-chr2:37212369..37214230,2	K562	blood:
5	chr2:37193009..37195682-chr2:37250815..37252662,2	K562	blood:
6	chr2:37214250..37217213-chr2:37218281..37220281,2	K562	blood:
7	chr2:37251052..37253037-chr2:37255174..37257744,2	K562	blood:
8	chr2:37218150..37220358-chr2:37221248..37224159,2	K562	blood:
9	chr2:37219829..37222181-chr2:37235362..37237238,2	K562	blood:
10	chr2:37237050..37239169-chr2:37241274..37243867,2	K562	blood:
11	chr2:37218150..37220358-chr2:37221248..37224159,2	K562	blood:
12	chr2:37250519..37253429-chr2:85770477..85772159,2	MCF-7	breast:
13	chr2:37191677..37193362-chr2:37233119..37235779,2	K562	blood:
14	chr2:37046380..37047296-chr2:37232183..37232895,3	MCF-7	breast:
15	chr2:37251052..37253037-chr2:37255174..37257744,2	K562	blood:
16	chr2:37227746..37229597-chr2:37231248..37232780,2	K562	blood:
17	chr2:37005040..37005587-chr2:37231880..37232793,2	MCF-7	breast:
18	chr2:37212231..37214849-chr2:37242255..37244987,2	K562	blood:
19	chr2:37212231..37214849-chr2:37242255..37244987,2	K562	blood:
20	chr2:37237050..37239169-chr2:37241274..37243867,2	K562	blood:
21	chr2:37227746..37229597-chr2:37231248..37232780,2	K562	blood:
22	chr2:37045354..37047713-chr2:37230824..37232867,2	MCF-7	breast:
23	chr2:37193008..37196048-chr2:37229865..37232262,3	MCF-7	breast:
24	chr2:37193659..37195188-chr2:37231958..37233613,2	MCF-7	breast:
25	chr2:37192024..37194292-chr2:37227624..37230036,2	MCF-7	breast:

Variant related genes	Relation type
HEATR5B	TF binding region
ENSG00000115808	chromatin interactions
ENSG00000008869	chromatin interactions

Extended variants
information (count: 1961 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1961 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11682782	chr2:37213186-37213187	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556783533	chr2:37213190-37213191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141107810	chr2:37213237-37213238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537833680	chr2:37213267-37213268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560861400	chr2:37213320-37213321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572314079	chr2:37213323-37213324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2541006	chr2:37213393-37213394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147015994	chr2:37213394-37213395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186086045	chr2:37213449-37213450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138163095	chr2:37213505-37213506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562295751	chr2:37213512-37213513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529863151	chr2:37213583-37213584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548153794	chr2:37213588-37213589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192251162	chr2:37213618-37213619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373007627	chr2:37213674-37213675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183557184	chr2:37213701-37213702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552145545	chr2:37213716-37213717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543931554	chr2:37213757-37213758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186449944	chr2:37213791-37213792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537896532	chr2:37213803-37213804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190482084	chr2:37213827-37213828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575058691	chr2:37213847-37213848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9636428	chr2:37213849-37213850	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554104049	chr2:37213853-37213854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572696641	chr2:37213884-37213885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150151578	chr2:37213885-37213886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564464874	chr2:37213904-37213905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577614364	chr2:37213905-37213906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372931495	chr2:37213914-37213915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6717174	chr2:37213932-37213933	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183091684	chr2:37213961-37213962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529382384	chr2:37214000-37214001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572236999	chr2:37214004-37214005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149596498	chr2:37214041-37214042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188159006	chr2:37214049-37214050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115578732	chr2:37214063-37214064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192765578	chr2:37214087-37214088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530099495	chr2:37214095-37214096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541212309	chr2:37214115-37214116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373099239	chr2:37214119-37214120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552193912	chr2:37214138-37214139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570412547	chr2:37214140-37214141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58762847	chr2:37214142-37214143	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549867664	chr2:37214151-37214152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568145371	chr2:37214162-37214163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535224364	chr2:37214179-37214180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554335660	chr2:37214237-37214238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566153473	chr2:37214244-37214245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542833968	chr2:37214269-37214270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111911796	chr2:37214321-37214322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1485 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37194400-37214200	Weak transcription	Pancreas	Pancrea
2	chr2:37194400-37229000	Weak transcription	Gastric	stomach
3	chr2:37194800-37226400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:37194800-37232400	Weak transcription	NHLF	lung
5	chr2:37195000-37213800	Weak transcription	Right Ventricle	heart
6	chr2:37195000-37224200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:37195200-37214000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:37195200-37217400	Weak transcription	NHDF-Ad	bronchial
9	chr2:37195200-37225400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:37195400-37213800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:37195400-37215000	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:37195400-37217600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:37195400-37227400	Weak transcription	A549	lung
15	chr2:37195400-37227600	Weak transcription	HUVEC	blood vessel
16	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:37195600-37215200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:37195600-37231400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:37195800-37229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:37196000-37213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:37196200-37226400	Weak transcription	Dnd41	blood
22	chr2:37200200-37213800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:37201000-37225200	Weak transcription	K562	blood
24	chr2:37202000-37228800	Weak transcription	Spleen	Spleen
25	chr2:37202600-37215200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:37202800-37213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:37202800-37214200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:37202800-37228800	Weak transcription	Aorta	Aorta
29	chr2:37203600-37231600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:37204200-37227600	Weak transcription	HepG2	liver
31	chr2:37204400-37228800	Weak transcription	Esophagus	oesophagus
32	chr2:37205200-37214200	Weak transcription	Thymus	Thymus
33	chr2:37205200-37220800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:37205200-37229400	Weak transcription	Brain Substantia Nigra	brain
35	chr2:37205400-37214200	Weak transcription	Fetal Thymus	thymus
36	chr2:37205600-37225200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:37206000-37213800	Weak transcription	HSMMtube	muscle
38	chr2:37206200-37218400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:37206400-37218200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:37206800-37215600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:37206800-37227400	Weak transcription	NHEK	skin
42	chr2:37207000-37225200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:37207200-37214200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:37207200-37215600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:37207400-37213800	Weak transcription	Fetal Stomach	stomach
46	chr2:37207400-37213800	Weak transcription	Lung	lung
47	chr2:37207400-37214000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:37207600-37213800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:37207600-37213800	Weak transcription	Ovary	ovary
50	chr2:37207600-37214000	Weak transcription	Fetal Muscle Leg	muscle

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